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rs76871093

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 carrier of a spinal muscular atrophy disease allele
(T;T) 6 Spinal muscular atrophy, type 2 or 3
ReferenceGRCh38 38.1/141
Chromosome5
Position70241990
GeneSMN1
is asnp
is mentioned by
dbSNPrs76871093
ebirs76871093
HLIrs76871093
Exacrs76871093
Varsomers76871093
Maprs76871093
PheGenIrs76871093
hapmaprs76871093
1000 genomesrs76871093
hgdprs76871093
ensemblrs76871093
gopubmedrs76871093
geneviewrs76871093
scholarrs76871093
googlers76871093
pharmgkbrs76871093
gwascentralrs76871093
openSNPrs76871093
23andMers76871093
23andMe allrs76871093
SNP Nexus

SNPshotrs76871093
SNPdbers76871093
MSV3drs76871093
GWAS Ctlgrs76871093
Merged fromRs104893925
Max Magnitude6

rs76871093, also known as c.821C>T, p.Thr274Ile and T274I, is a mutation in the SMN1 gene on chromosome 5.

The rare rs76871093(T) allele is a mutation associated with the recessively inherited type 2 or 3 spinal muscular atrophy.

This SNP is referred to as i5005727 by 23andMe.

ClinVar
Risk rs76871093(T;T)
Alt rs76871093(T;T)
Reference rs76871093(C;C)
Significance Pathogenic
Disease Spinal muscular atrophy Kugelberg-Welander disease
Variation info
Gene SMN1
CLNDBN Spinal muscular atrophy, type II Kugelberg-Welander disease
Reversed 0
HGVS NC_000005.9:g.70241990C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009734.2, RCV000009735.2,